Hemoglobinopathies are inherited single-gene disorders leading to production of abnormal hemoglobin or low hemoglobin.
Hemoglobinopathies are inherited single-gene disorders leading to production of abnormal hemoglobin or low hemoglobin. Approximately 7% of the global population are carriers and 2.7 per 1000 conceptions are affected by these disorders. The most common hemoglobinopathies are Sickle cell anemia and thalassemia. Sebia is a market leader in manufacturing diagnostic tests for hemoglobin disorders and protein electrophoresis. In July 2014, the company released its Hemoglobin Atlas which is a tool to enable Sebia’s capillary electrophoresis users to orientate their diagnosis of hemoglobin disorders.
Hemoglobin electrophoresis is an established lab method for detecting hemoglobin disorders. Sebia’s capillary electrophoresis technology allows for fast and efficient separation of hemoglobin fractions to determine major variants of hemoglobin and thereby aid in the detection of sickle cell or thalassemia patterns.
The Hemoglobin Atlas was released to mark the tenth successful year of this technology. The Hemoglobin Atlas is a reference manual for hemoglobinopathies. The Atlas is meant to enable laboratories increase their knowledge of hemoglobinopathies. The Atlas is mainly for Sebia’s capillary electrophoresis users.
Scientific counselor and collaborator, Professor Piero Giordano, Emertius professor and clinical biochemical molecular geneticist at the Leiden University medical center, Netherlands developed the content and research data. According to Professor Giordano, Atlas is an interactive educational aid enabling the tracking of as many hemoglobin variants as possible to pinpoint rare genotypes and combinations.
Sebia president and CEO, Benoit Adelus said that the company is focused on keeping the Altas interactive with constant updates. He also said the company would provide extranet access for Sebia customers.
The Hemoglobin Atlas will be updated as and when new case studies are found. Users are also being encouraged to contribute to the Atlas content by sharing their capillary electrophoresis profiles with rare hemoglobin variants.